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Page 1
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. Kumar R, et al. Among authors: elgersma y. Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020. Front Mol Neurosci. 2020. PMID: 32116545 Free PMC article.
Modulation of Murine Olivary Connexin 36 Gap Junctions by PKA and CaMKII.
Bazzigaluppi P, Isenia SC, Haasdijk ED, Elgersma Y, De Zeeuw CI, van der Giessen RS, de Jeu MTG. Bazzigaluppi P, et al. Among authors: elgersma y. Front Cell Neurosci. 2017 Dec 14;11:397. doi: 10.3389/fncel.2017.00397. eCollection 2017. Front Cell Neurosci. 2017. PMID: 29311830 Free PMC article.
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC, Mientjes EJ, Elgersma Y. Rotaru DC, et al. Among authors: elgersma y. Neuroscience. 2020 Oct 1;445:172-189. doi: 10.1016/j.neuroscience.2020.02.017. Epub 2020 Feb 21. Neuroscience. 2020. PMID: 32088294 Free article. Review.
Cortical Inhibition and Plasticity in Major Depressive Disorder.
Castricum J, Birkenhager TK, Kushner SA, Elgersma Y, Tulen JHM. Castricum J, et al. Among authors: elgersma y. Front Psychiatry. 2022 Jan 26;13:777422. doi: 10.3389/fpsyt.2022.777422. eCollection 2022. Front Psychiatry. 2022. PMID: 35153873 Free PMC article.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: elgersma y. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: elgersma m, elgersma y. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
174 results